Broomfield Hospital, Mid Essex Hospital Trust, Essex, UK.
Clinical Genetics Department, Evelina London Children's Hospital, London, UK.
Am J Med Genet A. 2020 Jun;182(6):1449-1453. doi: 10.1002/ajmg.a.61573. Epub 2020 Apr 7.
Wolf-Hirschhorn syndrome is a rare genetic disease caused by a chromosomal deletion of the distal short arm of Chromosome 4. It is associated with multisystem abnormalities, including delayed growth, characteristic facial features, epilepsy, and skeletal abnormalities. We report three patients who developed hip displacement, and describe the occurrence of delayed and nonunion in patients who underwent corrective proximal femoral osteotomy for hip displacement. We also performed a literature review identifying common musculoskeletal presentations associated with the condition. Patients with Wolf-Hirschhorn Syndrome are at risk of hip displacement (subluxation), and we would advocate annual hip surveillance in this patient group.
沃尔夫-赫希霍恩综合征是一种由 4 号染色体短臂远端缺失引起的罕见遗传疾病。它与多系统异常有关,包括生长迟缓、特征性面部特征、癫痫和骨骼异常。我们报告了 3 例发生髋关节移位的患者,并描述了接受髋关节移位矫正性股骨近端截骨术的患者中出现延迟愈合和不愈合的情况。我们还进行了文献回顾,确定了与该疾病相关的常见肌肉骨骼表现。沃尔夫-赫希霍恩综合征患者有髋关节移位(半脱位)的风险,我们主张在该患者群体中每年进行髋关节监测。